ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs) rs1370805955 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.44077del (p.Arg14693fs) rs2154220127
NM_001267550.2(TTN):c.48313-1G>A rs2154207046
NM_001267550.2(TTN):c.58432+2T>C rs796197320
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864

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